Leukodystrophy, psuedometachromatic

Common Name(s)

Pseudo-arylsulfatase A deficiency is when an individual carries genetic changes that cause a serious condition known as metachromatic leukodystrophy (MLD), but experiences none of the symptoms (asymptomatic) that are characteristic of that illness. Metachromatic leukodystrophy is one of many lysosomal storage disorders (please see: Lysosomal disorders). It is a progressively worsening inherited disorder, affecting the brain and spinal cord, characterized by the accumulation of fats within the cells called sulfatides. Both conditions are caused by genetic changes in either the ARSA or the PSAP genes which reduce the amount of arylsulfatase A (ASA) enzyme, a protein which functions to break down sulfatides. The accumulation of these sulfatides is what causes the symptoms associated with MLD including deteriorating brain function over time, losing the ability to walk or speak, seizures and more. In pseudo-arylsulfatase deficiency, though there is also a decrease in enzyme function, the cells still manage to breakdown the sulfatides thus preventing the damaging effects of build up. MLD can onset in late infancy, late childhood, or adulthood. Because measuring the individual's enzyme activity will show decreased function regardless of which condition they have, it is difficult to determine when or if symptoms will present. Diagnosis involves genetic and other testing in addition to enzyme function analysis to differentiate the types.

MLD and pseudo-arylsulfatase deficiency are inherited or passed through families in an autosomal recessive manner. This means that two copies of the changed gene are needed to produce the symptoms. In recessive conditions, each parent is an unaffected carrier. Each of their children has a 25% chance of being affected. A genetic counselor can provide further understanding of the inheritance and risks to future pregnancies.

Advocacy and Support Organizations

Condition Specific Organizations

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy.
We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill.
The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "Leukodystrophy, psuedometachromatic" for support, advocacy or research.

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy.
We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill.
The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

General Support Organizations

Recommended Apps

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for Leukodystrophy, psuedometachromatic can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Leukodystrophy, psuedometachromatic" returned 0 free, full-text research articles on human participants.

No free, full-text research articles on human participants are available at this time.
Please click this link to visit the PubMed website for results on "Leukodystrophy, psuedometachromatic".

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Leukodystrophy, psuedometachromatic" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time.
Please click this link to visit the PubMed website for results on "Leukodystrophy, psuedometachromatic".

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Leukodystrophy, psuedometachromatic" (open studies are recruiting volunteers) and 0 "Leukodystrophy, psuedometachromatic" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Leukodystrophy, psuedometachromatic can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.